Canonical Allele Identifier: CA414239159

Gene: PAK3

Linked Data

• ClinVar Variation Id: 1371362
• ClinVar RCV Id: RCV001899556
• dbSNP Id: rs2149331709
• MyVariant Identifiers: chrX:g.110439689G>A (hg19) ; chrX:g.111196461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.111196461G>A , CM000685.2:g.111196461G>A	GRCh38
NC_000023.10:g.110439689G>A , CM000685.1:g.110439689G>A	GRCh37
NC_000023.9:g.110326345G>A	NCBI36
NG_008288.1:g.257177G>A
NG_008288.2:g.257177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518291.6:c.1336G>A	ENSP00000428921.1:p.Ala446Thr
ENST00000372007.10:c.1228G>A MANE Select	ENSP00000361077.4:p.Ala410Thr
ENST00000262836.6:c.1273G>A	ENSP00000262836.4:p.Ala425Thr
ENST00000360648.8:c.1336G>A	ENSP00000353864.4:p.Ala446Thr
ENST00000372007.9:c.1228G>A	ENSP00000361077.4:p.Ala410Thr
ENST00000372010.5:c.1273G>A	ENSP00000361080.1:p.Ala425Thr
ENST00000417227.5:c.1291G>A	ENSP00000389172.1:p.Ala431Thr
ENST00000425146.5:c.1228G>A	ENSP00000401982.1:p.Ala410Thr
ENST00000446737.5:c.1228G>A	ENSP00000410853.1:p.Ala410Thr
ENST00000518291.5:c.1336G>A	ENSP00000428921.1:p.Ala446Thr
ENST00000519681.5:c.1291G>A	ENSP00000429113.1:p.Ala431Thr
ENST00000620137.3:c.1225G>A	ENSP00000484798.1:p.Ala409Thr
NM_001128166.1:c.1228G>A	NP_001121638.1:p.Ala410Thr
NM_001128167.1:c.1228G>A	NP_001121639.1:p.Ala410Thr
NM_001128168.1:c.1336G>A	NP_001121640.1:p.Ala446Thr
NM_001128172.1:c.1291G>A	NP_001121644.1:p.Ala431Thr
NM_001128173.1:c.1273G>A	NP_001121645.1:p.Ala425Thr
NM_002578.3:c.1228G>A	NP_002569.1:p.Ala410Thr
XM_005262132.2:c.1273G>A	XP_005262189.1:p.Ala425Thr
XM_005262133.3:c.1228G>A	XP_005262190.1:p.Ala410Thr
XM_006724654.2:c.1273G>A	XP_006724717.1:p.Ala425Thr
XM_006724655.2:c.1273G>A	XP_006724718.1:p.Ala425Thr
XM_006724656.2:c.1273G>A	XP_006724719.1:p.Ala425Thr
XM_011530962.1:c.1273G>A	XP_011529264.1:p.Ala425Thr
XM_011530963.1:c.1273G>A	XP_011529265.1:p.Ala425Thr
XM_011530964.1:c.1273G>A	XP_011529266.1:p.Ala425Thr
XM_011530965.1:c.1273G>A	XP_011529267.1:p.Ala425Thr
XM_011530966.1:c.1273G>A	XP_011529268.1:p.Ala425Thr
XM_011530967.1:c.1273G>A	XP_011529269.1:p.Ala425Thr
XM_011530968.1:c.1273G>A	XP_011529270.1:p.Ala425Thr
XM_011530969.1:c.1273G>A	XP_011529271.1:p.Ala425Thr
XM_011530970.1:c.1228G>A	XP_011529272.1:p.Ala410Thr
XR_244474.2:n.1894G>A
NM_001128166.2:c.1228G>A	NP_001121638.1:p.Ala410Thr
NM_001128167.2:c.1228G>A	NP_001121639.1:p.Ala410Thr
NM_001128168.2:c.1336G>A	NP_001121640.1:p.Ala446Thr
NM_001128172.2:c.1291G>A	NP_001121644.1:p.Ala431Thr
NM_001128173.2:c.1273G>A	NP_001121645.1:p.Ala425Thr
NM_001324325.1:c.1228G>A	NP_001311254.1:p.Ala410Thr
NM_001324326.1:c.1228G>A	NP_001311255.1:p.Ala410Thr
NM_001324327.1:c.1273G>A	NP_001311256.1:p.Ala425Thr
NM_001324328.1:c.1273G>A	NP_001311257.1:p.Ala425Thr
NM_001324329.1:c.1273G>A	NP_001311258.1:p.Ala425Thr
NM_001324330.1:c.1228G>A	NP_001311259.1:p.Ala410Thr
NM_001324331.1:c.1228G>A	NP_001311260.1:p.Ala410Thr
NM_001324332.1:c.1228G>A	NP_001311261.1:p.Ala410Thr
NM_001324333.1:c.1273G>A	NP_001311262.1:p.Ala425Thr
NM_001324334.1:c.1228G>A	NP_001311263.1:p.Ala410Thr
NM_002578.4:c.1228G>A	NP_002569.1:p.Ala410Thr
NR_136747.1:n.1706G>A
NR_136748.1:n.1403G>A
XM_011530967.2:c.1273G>A	XP_011529269.1:p.Ala425Thr
XM_011530968.2:c.1273G>A	XP_011529270.1:p.Ala425Thr
XM_017029557.1:c.1273G>A	XP_016885046.1:p.Ala425Thr
XM_017029558.1:c.1228G>A	XP_016885047.1:p.Ala410Thr
XM_017029559.1:c.1228G>A	XP_016885048.1:p.Ala410Thr
XM_017029560.1:c.1228G>A	XP_016885049.1:p.Ala410Thr
XM_017029561.2:c.1228G>A	XP_016885050.1:p.Ala410Thr
XM_017029562.1:c.1273G>A	XP_016885051.1:p.Ala425Thr
XM_017029563.1:c.1336G>A	XP_016885052.1:p.Ala446Thr
NM_002578.5:c.1228G>A MANE Select	NP_002569.1:p.Ala410Thr
NM_001128168.3:c.1336G>A	NP_001121640.1:p.Ala446Thr
NM_001128173.3:c.1273G>A	NP_001121645.1:p.Ala425Thr
NM_001324325.2:c.1228G>A	NP_001311254.1:p.Ala410Thr
NM_001324326.2:c.1228G>A	NP_001311255.1:p.Ala410Thr
NM_001324327.2:c.1273G>A	NP_001311256.1:p.Ala425Thr
NM_001324328.2:c.1273G>A	NP_001311257.1:p.Ala425Thr
NM_001324329.2:c.1273G>A	NP_001311258.1:p.Ala425Thr
NM_001324330.2:c.1228G>A	NP_001311259.1:p.Ala410Thr
NM_001324331.2:c.1228G>A	NP_001311260.1:p.Ala410Thr
NM_001324332.2:c.1228G>A	NP_001311261.1:p.Ala410Thr
NM_001324333.2:c.1273G>A	NP_001311262.1:p.Ala425Thr
NM_001324334.2:c.1228G>A	NP_001311263.1:p.Ala410Thr
NR_136747.2:n.1657G>A
NM_001128166.3:c.1228G>A	NP_001121638.1:p.Ala410Thr
NM_001128167.3:c.1228G>A	NP_001121639.1:p.Ala410Thr